

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | piRNA metabolic process (GO:0034587) | 9.72846456 |
| 2 | motile cilium assembly (GO:0044458) | 9.52192319 |
| 3 | reproduction (GO:0000003) | 9.47511902 |
| 4 | spermatid development (GO:0007286) | 9.30341989 |
| 5 | male meiosis (GO:0007140) | 8.75344227 |
| 6 | epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287) | 8.72361415 |
| 7 | cilium movement (GO:0003341) | 8.71602842 |
| 8 | regulation of cilium movement (GO:0003352) | 8.13911290 |
| 9 | synaptonemal complex organization (GO:0070193) | 8.05118520 |
| 10 | synaptonemal complex assembly (GO:0007130) | 7.66700292 |
| 11 | single fertilization (GO:0007338) | 7.63813677 |
| 12 | sperm capacitation (GO:0048240) | 6.82557204 |
| 13 | fertilization (GO:0009566) | 6.50727710 |
| 14 | negative regulation of inclusion body assembly (GO:0090084) | 6.27202080 |
| 15 | DNA methylation involved in gamete generation (GO:0043046) | 6.18657082 |
| 16 | spermatogenesis (GO:0007283) | 6.04526918 |
| 17 | male gamete generation (GO:0048232) | 6.02369619 |
| 18 | male meiosis I (GO:0007141) | 5.79934762 |
| 19 | gamete generation (GO:0007276) | 5.53612024 |
| 20 | ventricular system development (GO:0021591) | 5.52676329 |
| 21 | microtubule depolymerization (GO:0007019) | 5.51361437 |
| 22 | chromosome organization involved in meiosis (GO:0070192) | 5.42559370 |
| 23 | germ cell development (GO:0007281) | 5.31641688 |
| 24 | cellular process involved in reproduction in multicellular organism (GO:0022412) | 5.30008370 |
| 25 | organic cation transport (GO:0015695) | 5.23252527 |
| 26 | regulation of inclusion body assembly (GO:0090083) | 5.11415570 |
| 27 | meiotic nuclear division (GO:0007126) | 5.03539077 |
| 28 | calcium ion-dependent exocytosis (GO:0017156) | 4.87167427 |
| 29 | cell recognition (GO:0008037) | 4.86730442 |
| 30 | seminiferous tubule development (GO:0072520) | 4.84136742 |
| 31 | regulation of microtubule-based movement (GO:0060632) | 4.82135251 |
| 32 | meiosis I (GO:0007127) | 4.67800512 |
| 33 | microtubule severing (GO:0051013) | 4.45784427 |
| 34 | multicellular organismal reproductive process (GO:0048609) | 4.35619371 |
| 35 | meiotic cell cycle (GO:0051321) | 4.28361158 |
| 36 | left/right pattern formation (GO:0060972) | 4.25685091 |
| 37 | monoubiquitinated protein deubiquitination (GO:0035520) | 4.24248460 |
| 38 | spermatid nucleus differentiation (GO:0007289) | 4.22154949 |
| 39 | protein localization to cilium (GO:0061512) | 4.20654302 |
| 40 | genitalia morphogenesis (GO:0035112) | 3.96904643 |
| 41 | glycerol ether metabolic process (GO:0006662) | 3.96718701 |
| 42 | chaperone-mediated protein complex assembly (GO:0051131) | 3.84238082 |
| 43 | intraciliary transport (GO:0042073) | 3.68851401 |
| 44 | ether metabolic process (GO:0018904) | 3.66337833 |
| 45 | gene silencing by RNA (GO:0031047) | 3.65656941 |
| 46 | multicellular organismal development (GO:0007275) | 3.54189888 |
| 47 | protein polyglutamylation (GO:0018095) | 3.51801630 |
| 48 | lactate metabolic process (GO:0006089) | 3.47562196 |
| 49 | synapsis (GO:0007129) | 3.34832191 |
| 50 | axoneme assembly (GO:0035082) | 3.34464277 |
| 51 | microtubule-based movement (GO:0007018) | 3.31007523 |
| 52 | chromosome condensation (GO:0030261) | 3.29211444 |
| 53 | negative regulation of organelle assembly (GO:1902116) | 3.26841577 |
| 54 | meiotic cell cycle process (GO:1903046) | 3.21775674 |
| 55 | carnitine transport (GO:0015879) | 3.20116874 |
| 56 | amino-acid betaine transport (GO:0015838) | 3.20116874 |
| 57 | alditol metabolic process (GO:0019400) | 3.19586630 |
| 58 | carnitine transmembrane transport (GO:1902603) | 3.15471206 |
| 59 | DNA packaging (GO:0006323) | 3.15143230 |
| 60 | cilium organization (GO:0044782) | 3.14245378 |
| 61 | nucleoside diphosphate phosphorylation (GO:0006165) | 3.12910386 |
| 62 | protein refolding (GO:0042026) | 3.12341690 |
| 63 | polyol catabolic process (GO:0046174) | 3.11747049 |
| 64 | regulation of centriole replication (GO:0046599) | 3.09998783 |
| 65 | protein K11-linked deubiquitination (GO:0035871) | 3.05002949 |
| 66 | regulation of spindle checkpoint (GO:0090231) | 2.98499779 |
| 67 | cilium assembly (GO:0042384) | 2.98293805 |
| 68 | GTP biosynthetic process (GO:0006183) | 2.96125778 |
| 69 | glycolytic process (GO:0006096) | 2.95127785 |
| 70 | regulation of meiosis I (GO:0060631) | 2.93948292 |
| 71 | nuclear pore complex assembly (GO:0051292) | 2.93536105 |
| 72 | single strand break repair (GO:0000012) | 2.91920526 |
| 73 | cilium morphogenesis (GO:0060271) | 2.91276897 |
| 74 | cellular component assembly involved in morphogenesis (GO:0010927) | 2.91266455 |
| 75 | centriole assembly (GO:0098534) | 2.90295692 |
| 76 | mitotic sister chromatid cohesion (GO:0007064) | 2.89758155 |
| 77 | centriole replication (GO:0007099) | 2.85719964 |
| 78 | microtubule polymerization or depolymerization (GO:0031109) | 2.82443398 |
| 79 | regulation of protein polyubiquitination (GO:1902914) | 2.80798644 |
| 80 | glycerol metabolic process (GO:0006071) | 2.79275484 |
| 81 | nucleus organization (GO:0006997) | 2.74045838 |
| 82 | sexual reproduction (GO:0019953) | 2.69864763 |
| 83 | gene silencing (GO:0016458) | 2.66449763 |
| 84 | UTP biosynthetic process (GO:0006228) | 2.64654769 |
| 85 | negative regulation of DNA repair (GO:0045738) | 2.53392076 |
| 86 | peptidyl-glutamic acid modification (GO:0018200) | 2.49398386 |
| 87 | cilium or flagellum-dependent cell motility (GO:0001539) | 14.1869874 |
| 88 | fusion of sperm to egg plasma membrane (GO:0007342) | 14.0551115 |
| 89 | sperm motility (GO:0030317) | 12.7811798 |
| 90 | acrosome assembly (GO:0001675) | 11.5479302 |
| 91 | multicellular organism reproduction (GO:0032504) | 11.4112537 |
| 92 | sperm-egg recognition (GO:0035036) | 11.2754967 |
| 93 | axonemal dynein complex assembly (GO:0070286) | 10.9253096 |
| 94 | plasma membrane fusion (GO:0045026) | 10.7157500 |
| 95 | cell wall macromolecule metabolic process (GO:0044036) | 10.6676960 |
| 96 | cell wall macromolecule catabolic process (GO:0016998) | 10.6676960 |
| 97 | acrosome reaction (GO:0007340) | 10.5806323 |
| 98 | binding of sperm to zona pellucida (GO:0007339) | 10.3334175 |
| 99 | epithelial cilium movement (GO:0003351) | 10.1830315 |
| 100 | cell-cell recognition (GO:0009988) | 10.0897009 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | EZH2_22144423_ChIP-Seq_EOC_Human | 5.26066489 |
| 2 | TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 4.65051865 |
| 3 | BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse | 3.55524297 |
| 4 | GLI1_17442700_ChIP-ChIP_MESCs_Mouse | 2.76564377 |
| 5 | PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse | 2.52934256 |
| 6 | FLI1_27457419_Chip-Seq_LIVER_Mouse | 2.39240453 |
| 7 | CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human | 2.31135833 |
| 8 | ZFP322A_24550733_ChIP-Seq_MESCs_Mouse | 2.26951988 |
| 9 | ZNF274_21170338_ChIP-Seq_K562_Hela | 2.23166495 |
| 10 | CREM_20920259_ChIP-Seq_GC1-SPG_Mouse | 2.15472773 |
| 11 | EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human | 2.07702474 |
| 12 | PCGF2_27294783_Chip-Seq_ESCs_Mouse | 2.04012967 |
| 13 | MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse | 11.0343718 |
| 14 | VDR_22108803_ChIP-Seq_LS180_Human | 1.89402774 |
| 15 | STAT6_21828071_ChIP-Seq_BEAS2B_Human | 1.85713273 |
| 16 | GATA1_26923725_Chip-Seq_HPCs_Mouse | 1.81687383 |
| 17 | ELK4_26923725_Chip-Seq_MESODERM_Mouse | 1.75042723 |
| 18 | KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse | 1.69840834 |
| 19 | TAL1_21186366_ChIP-Seq_BM-HSCs_Mouse | 1.69713880 |
| 20 | RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse | 1.68768494 |
| 21 | STAT1_17558387_ChIP-Seq_HELA_Human | 1.61236628 |
| 22 | PCGF2_27294783_Chip-Seq_NPCs_Mouse | 1.57785834 |
| 23 | WDR5_24793694_ChIP-Seq_LNCAP_Human | 1.55033104 |
| 24 | CBX2_27304074_Chip-Seq_ESCs_Mouse | 1.55013687 |
| 25 | GATA2_21186366_ChIP-Seq_BM-HSCs_Mouse | 1.53365197 |
| 26 | * KAP1_22055183_ChIP-Seq_ESCs_Mouse | 1.49800556 |
| 27 | NFE2_27457419_Chip-Seq_LIVER_Mouse | 1.47022439 |
| 28 | TAL1_26923725_Chip-Seq_HPCs_Mouse | 1.46774977 |
| 29 | FLI1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 1.46069415 |
| 30 | ZNF652_21678463_ChIP-ChIP_ZR75-1_Human | 1.45915472 |
| 31 | KDM2B_26808549_Chip-Seq_REH_Human | 1.43819020 |
| 32 | CBP_20019798_ChIP-Seq_JUKART_Human | 1.41487485 |
| 33 | IRF4_20064451_ChIP-Seq_CD4+T_Mouse | 1.41487485 |
| 34 | SUZ12_27294783_Chip-Seq_NPCs_Mouse | 1.38030973 |
| 35 | SOX2_22085726_ChIP-Seq_NPCs_Mouse | 1.36048762 |
| 36 | TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse | 1.31070720 |
| 37 | GATA3_21867929_ChIP-Seq_CD8_Mouse | 1.30860980 |
| 38 | GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.30310139 |
| 39 | * MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse | 1.29999756 |
| 40 | FLI1_21867929_ChIP-Seq_TH2_Mouse | 1.22881926 |
| 41 | LUZP1_20508642_ChIP-Seq_ESCs_Mouse | 1.21768586 |
| 42 | NR4A2_19515692_ChIP-ChIP_MN9D_Mouse | 1.21325140 |
| 43 | REST_21632747_ChIP-Seq_MESCs_Mouse | 1.20919127 |
| 44 | GATA3_21867929_ChIP-Seq_TH1_Mouse | 1.18396987 |
| 45 | CRX_20693478_ChIP-Seq_RETINA_Mouse | 1.16851006 |
| 46 | SIN3B_21632747_ChIP-Seq_MESCs_Mouse | 1.14572140 |
| 47 | SETDB1_19884257_ChIP-Seq_MESCs_Mouse | 1.13945537 |
| 48 | NANOG_18555785_Chip-Seq_ESCs_Mouse | 1.13733042 |
| 49 | P53_21459846_ChIP-Seq_SAOS-2_Human | 1.13323860 |
| 50 | ZFP57_27257070_Chip-Seq_ESCs_Mouse | 1.11210109 |
| 51 | CTBP2_25329375_ChIP-Seq_LNCAP_Human | 1.10652198 |
| 52 | TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.10554075 |
| 53 | POU5F1_26923725_Chip-Seq_MESODERM_Mouse | 1.10554075 |
| 54 | EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse | 1.09618677 |
| 55 | OCT4_18555785_Chip-Seq_ESCs_Mouse | 1.08636845 |
| 56 | MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse | 1.08634031 |
| 57 | PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse | 1.08083383 |
| 58 | FLI1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse | 1.07986649 |
| 59 | MYCN_21190229_ChIP-Seq_SHEP-21N_Human | 1.07656924 |
| 60 | CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse | 1.07633493 |
| 61 | RNF2_27304074_Chip-Seq_NSC_Mouse | 1.05986500 |
| 62 | GF1_26923725_Chip-Seq_HPCs_Mouse | 1.05724294 |
| 63 | EZH2_27294783_Chip-Seq_NPCs_Mouse | 1.04313755 |
| 64 | P53_22387025_ChIP-Seq_ESCs_Mouse | 1.04265859 |
| 65 | RAD21_21589869_ChIP-Seq_MESCs_Mouse | 1.04110382 |
| 66 | TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.03699720 |
| 67 | RUNX1_26923725_Chip-Seq_HPCs_Mouse | 1.02311307 |
| 68 | EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human | 1.01448367 |
| 69 | P300_18555785_Chip-Seq_ESCs_Mouse | 1.00984452 |
| 70 | PPARG_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse | 1.00605665 |
| 71 | * CEBPB_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse | 1.00191072 |
| 72 | OCT4_21477851_ChIP-Seq_ESCs_Mouse | 0.98745769 |
| 73 | TAF15_26573619_Chip-Seq_HEK293_Human | 0.98509501 |
| 74 | PBX1_22567123_ChIP-ChIP_OVCAR3_Human | 0.97778167 |
| 75 | CMYC_18555785_Chip-Seq_ESCs_Mouse | 0.97527112 |
| 76 | KLF4_18555785_Chip-Seq_ESCs_Mouse | 0.97212755 |
| 77 | ERG_20517297_ChIP-Seq_VCAP_Human | 0.95941282 |
| 78 | EBF1_22473956_ChIP-Seq_LYMPHODE_Mouse | 0.95638092 |
| 79 | ESET_19884257_ChIP-Seq_ESCs_Mouse | 0.93386954 |
| 80 | ESRRB_18555785_Chip-Seq_ESCs_Mouse | 0.93151462 |
| 81 | SPI1_26923725_Chip-Seq_HPCs_Mouse | 0.92582284 |
| 82 | * PPARG_20176806_ChIP-Seq_3T3-L1_Mouse | 0.92509319 |
| 83 | STAT3_18555785_Chip-Seq_ESCs_Mouse | 0.91662237 |
| 84 | EBNA1_20929547_Chip-Seq_RAJI-cells_Human | 0.90912693 |
| 85 | CEBPB_26923725_Chip-Seq_MESODERM_Mouse | 0.90519959 |
| 86 | SPI1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 0.88655188 |
| 87 | PPARG_20176806_ChIP-Seq_MACROPHAGES_Mouse | 0.88475836 |
| 88 | SUZ12_18555785_Chip-Seq_ESCs_Mouse | 0.88109614 |
| 89 | YY1_22570637_ChIP-Seq_MALME-3M_Human | 0.87838526 |
| 90 | CEBPB_26923725_Chip-Seq_MACROPHAGESS_Mouse | 0.86927100 |
| 91 | RCOR3_21632747_ChIP-Seq_MESCs_Mouse | 0.85878065 |
| 92 | PU1_27457419_Chip-Seq_LIVER_Mouse | 0.84712459 |
| 93 | SOX9_26525672_Chip-Seq_HEART_Mouse | 0.84595750 |
| 94 | NFYB_21822215_ChIP-Seq_K562_Human | 0.84224360 |
| 95 | SMAD4_21741376_ChIP-Seq_EPCs_Human | 0.83942053 |
| 96 | FLI1_21867929_ChIP-Seq_CD8_Mouse | 0.83731687 |
| 97 | RXRA_24833708_ChIP-Seq_LIVER_Mouse | 0.83172336 |
| 98 | MYC_27129775_Chip-Seq_CORNEA_Mouse | 0.83137173 |
| 99 | SOX2_21211035_ChIP-Seq_LN229_Human | 0.83062815 |
| 100 | SMAD2/3_21741376_ChIP-Seq_EPCs_Human | 0.82471359 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MP0003698_abnormal_male_reproductive | 6.08699736 |
| 2 | MP0001929_abnormal_gametogenesis | 5.58791234 |
| 3 | MP0008877_abnormal_DNA_methylation | 5.22829907 |
| 4 | MP0002210_abnormal_sex_determination | 3.78722488 |
| 5 | MP0002161_abnormal_fertility/fecundity | 3.30201948 |
| 6 | MP0002653_abnormal_ependyma_morphology | 3.17282453 |
| 7 | MP0001145_abnormal_male_reproductive | 3.17083676 |
| 8 | MP0000653_abnormal_sex_gland | 2.75110966 |
| 9 | MP0005623_abnormal_meninges_morphology | 2.09891454 |
| 10 | MP0005670_abnormal_white_adipose | 2.02026252 |
| 11 | MP0005410_abnormal_fertilization | 15.5786354 |
| 12 | MP0002160_abnormal_reproductive_system | 1.85919832 |
| 13 | MP0008057_abnormal_DNA_replication | 1.59581144 |
| 14 | MP0002282_abnormal_trachea_morphology | 1.51888941 |
| 15 | MP0003646_muscle_fatigue | 1.25537412 |
| 16 | MP0008058_abnormal_DNA_repair | 1.22782652 |
| 17 | MP0005647_abnormal_sex_gland | 1.21602852 |
| 18 | MP0009046_muscle_twitch | 1.10457989 |
| 19 | MP0004233_abnormal_muscle_weight | 1.10201499 |
| 20 | MP0001765_abnormal_ion_homeostasis | 1.10159539 |
| 21 | MP0008995_early_reproductive_senescence | 1.09888674 |
| 22 | MP0001984_abnormal_olfaction | 1.04160595 |
| 23 | MP0010094_abnormal_chromosome_stability | 1.02856248 |
| 24 | MP0003011_delayed_dark_adaptation | 0.94315723 |
| 25 | MP0005389_reproductive_system_phenotype | 0.94141517 |
| 26 | MP0003786_premature_aging | 0.81182700 |
| 27 | MP0000569_abnormal_digit_pigmentation | 0.78098623 |
| 28 | MP0008007_abnormal_cellular_replicative | 0.74872647 |
| 29 | MP0005377_hearing/vestibular/ear_phenot | 0.63794975 |
| 30 | MP0003878_abnormal_ear_physiology | 0.63794975 |
| 31 | MP0002234_abnormal_pharynx_morphology | 0.63463131 |
| 32 | MP0003950_abnormal_plasma_membrane | 0.61731337 |
| 33 | MP0003115_abnormal_respiratory_system | 0.61212978 |
| 34 | MP0000358_abnormal_cell_content/ | 0.60775789 |
| 35 | MP0005636_abnormal_mineral_homeostasis | 0.55617556 |
| 36 | MP0005397_hematopoietic_system_phenotyp | 0.54348449 |
| 37 | MP0001545_abnormal_hematopoietic_system | 0.54348449 |
| 38 | MP0002928_abnormal_bile_duct | 0.53820399 |
| 39 | MP0004134_abnormal_chest_morphology | 0.52641412 |
| 40 | MP0003699_abnormal_female_reproductive | 0.48960652 |
| 41 | MP0003111_abnormal_nucleus_morphology | 0.47770215 |
| 42 | MP0004808_abnormal_hematopoietic_stem | 0.47393382 |
| 43 | MP0009278_abnormal_bone_marrow | 0.47001118 |
| 44 | MP0005666_abnormal_adipose_tissue | 0.44573108 |
| 45 | MP0001324_abnormal_eye_pigmentation | 0.44392162 |
| 46 | MP0003329_amyloid_beta_deposits | 0.43493830 |
| 47 | MP0004036_abnormal_muscle_relaxation | 0.43010592 |
| 48 | MP0001293_anophthalmia | 0.42919823 |
| 49 | MP0010307_abnormal_tumor_latency | 0.42730828 |
| 50 | MP0005253_abnormal_eye_physiology | 0.41808362 |
| 51 | MP0001119_abnormal_female_reproductive | 0.41585976 |
| 52 | MP0005551_abnormal_eye_electrophysiolog | 0.41266355 |
| 53 | MP0002102_abnormal_ear_morphology | 0.37436097 |
| 54 | MP0004019_abnormal_vitamin_homeostasis | 0.36126951 |
| 55 | MP0001764_abnormal_homeostasis | 0.36108929 |
| 56 | MP0005391_vision/eye_phenotype | 0.35089239 |
| 57 | MP0002971_abnormal_brown_adipose | 0.34312695 |
| 58 | MP0002269_muscular_atrophy | 0.34244956 |
| 59 | MP0001730_embryonic_growth_arrest | 0.33089798 |
| 60 | MP0001727_abnormal_embryo_implantation | 0.31261890 |
| 61 | MP0009115_abnormal_fat_cell | 0.29291774 |
| 62 | MP0006036_abnormal_mitochondrial_physio | 0.27578550 |
| 63 | MP0003633_abnormal_nervous_system | 0.25730812 |
| 64 | MP0000313_abnormal_cell_death | 0.25183544 |
| 65 | MP0003861_abnormal_nervous_system | 0.25048786 |
| 66 | MP0004133_heterotaxia | 0.23093049 |
| 67 | MP0002152_abnormal_brain_morphology | 0.22872253 |
| 68 | MP0003077_abnormal_cell_cycle | 0.22401613 |
| 69 | MP0004811_abnormal_neuron_physiology | 0.21593690 |
| 70 | MP0002092_abnormal_eye_morphology | 0.21344096 |
| 71 | MP0003045_fibrosis | 0.21296067 |
| 72 | MP0008961_abnormal_basal_metabolism | 0.20603558 |
| 73 | MP0003879_abnormal_hair_cell | 0.20463056 |
| 74 | MP0002084_abnormal_developmental_patter | 0.20299268 |
| 75 | MP0000604_amyloidosis | 0.19543472 |
| 76 | MP0001661_extended_life_span | 0.19528863 |
| 77 | MP0000534_abnormal_ureter_morphology | 0.19264035 |
| 78 | MP0001851_eye_inflammation | 0.19192805 |
| 79 | MP0003942_abnormal_urinary_system | 0.18698149 |
| 80 | MP0003631_nervous_system_phenotype | 0.18525908 |
| 81 | MP0000427_abnormal_hair_cycle | 0.18426939 |
| 82 | MP0000751_myopathy | 0.18212783 |
| 83 | MP0006072_abnormal_retinal_apoptosis | 0.18060629 |
| 84 | MP0002139_abnormal_hepatobiliary_system | 0.16264735 |
| 85 | MP0006035_abnormal_mitochondrial_morpho | 0.15555912 |
| 86 | MP0005423_abnormal_somatic_nervous | 0.14968319 |
| 87 | MP0002229_neurodegeneration | 0.14422152 |
| 88 | MP0002169_no_abnormal_phenotype | 0.14380399 |
| 89 | MP0002108_abnormal_muscle_morphology | 0.14280501 |
| 90 | MP0003948_abnormal_gas_homeostasis | 0.14275638 |
| 91 | MP0001986_abnormal_taste_sensitivity | 0.14251385 |
| 92 | MP0002295_abnormal_pulmonary_circulatio | 0.14233015 |
| 93 | MP0002873_normal_phenotype | 0.14118920 |
| 94 | MP0002736_abnormal_nociception_after | 0.13867321 |
| 95 | MP0002405_respiratory_system_inflammati | 0.13682520 |
| 96 | MP0001849_ear_inflammation | 0.13659034 |
| 97 | MP0001672_abnormal_embryogenesis/_devel | 0.13305504 |
| 98 | MP0005380_embryogenesis_phenotype | 0.13305504 |
| 99 | MP0001697_abnormal_embryo_size | 0.12657704 |
| 100 | MP0002970_abnormal_white_adipose | 0.12606663 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Abnormal respiratory motile cilium physiology (HP:0012261) | 9.54393228 |
| 2 | Abnormal respiratory motile cilium morphology (HP:0005938) | 9.16133988 |
| 3 | Abnormal respiratory epithelium morphology (HP:0012253) | 9.16133988 |
| 4 | Rhinitis (HP:0012384) | 7.93296794 |
| 5 | Abnormal ciliary motility (HP:0012262) | 7.78557437 |
| 6 | Chronic bronchitis (HP:0004469) | 7.40845553 |
| 7 | Nasal polyposis (HP:0100582) | 6.42176348 |
| 8 | Infertility (HP:0000789) | 6.37803098 |
| 9 | Abnormality of the nasal mucosa (HP:0000433) | 5.28121507 |
| 10 | Bronchiectasis (HP:0002110) | 4.60366739 |
| 11 | Bronchitis (HP:0012387) | 4.54843446 |
| 12 | Nephronophthisis (HP:0000090) | 4.43057003 |
| 13 | Male infertility (HP:0003251) | 3.70097678 |
| 14 | Recurrent sinusitis (HP:0011108) | 3.52848755 |
| 15 | Abnormality of the renal medulla (HP:0100957) | 3.38907980 |
| 16 | Recurrent otitis media (HP:0000403) | 3.31962155 |
| 17 | Abnormality of the lower motor neuron (HP:0002366) | 3.26858071 |
| 18 | Tubulointerstitial nephritis (HP:0001970) | 3.01656450 |
| 19 | Abnormal spermatogenesis (HP:0008669) | 3.01554331 |
| 20 | Gonadotropin excess (HP:0000837) | 2.89843817 |
| 21 | Recurrent bronchitis (HP:0002837) | 2.64175376 |
| 22 | Abnormality of midbrain morphology (HP:0002418) | 2.62846055 |
| 23 | Molar tooth sign on MRI (HP:0002419) | 2.62846055 |
| 24 | Medial flaring of the eyebrow (HP:0010747) | 2.62712852 |
| 25 | Amyotrophic lateral sclerosis (HP:0007354) | 2.58429433 |
| 26 | Tubular atrophy (HP:0000092) | 2.55626766 |
| 27 | Tubulointerstitial abnormality (HP:0001969) | 2.46673620 |
| 28 | Fibular hypoplasia (HP:0003038) | 2.38299844 |
| 29 | Impulsivity (HP:0100710) | 2.24512350 |
| 30 | Azoospermia (HP:0000027) | 2.13110241 |
| 31 | Postaxial foot polydactyly (HP:0001830) | 2.07357880 |
| 32 | Impaired proprioception (HP:0010831) | 2.00684105 |
| 33 | Respiratory insufficiency due to defective ciliary clearance (HP:0200073) | 13.5522789 |
| 34 | Absent/shortened dynein arms (HP:0200106) | 13.1373095 |
| 35 | Dynein arm defect of respiratory motile cilia (HP:0012255) | 13.1373095 |
| 36 | Stage 5 chronic kidney disease (HP:0003774) | 1.96561156 |
| 37 | Tubulointerstitial fibrosis (HP:0005576) | 1.89654390 |
| 38 | Hypoplasia of the capital femoral epiphysis (HP:0003090) | 1.88516444 |
| 39 | Congenital hepatic fibrosis (HP:0002612) | 1.85953139 |
| 40 | Abnormality of the renal cortex (HP:0011035) | 1.83503230 |
| 41 | Upper motor neuron abnormality (HP:0002127) | 1.83065266 |
| 42 | Absent frontal sinuses (HP:0002688) | 1.79956655 |
| 43 | Short ribs (HP:0000773) | 1.77066840 |
| 44 | Abnormality of the dental root (HP:0006486) | 1.75925870 |
| 45 | Taurodontia (HP:0000679) | 1.75925870 |
| 46 | Abnormality of permanent molar morphology (HP:0011071) | 1.75925870 |
| 47 | Oculomotor apraxia (HP:0000657) | 1.75493993 |
| 48 | Abnormality of dentin (HP:0010299) | 1.74028112 |
| 49 | Polydipsia (HP:0001959) | 1.73919749 |
| 50 | Abnormal drinking behavior (HP:0030082) | 1.73919749 |
| 51 | Degeneration of anterior horn cells (HP:0002398) | 1.73688346 |
| 52 | Abnormality of the anterior horn cell (HP:0006802) | 1.73688346 |
| 53 | J-shaped sella turcica (HP:0002680) | 1.73233720 |
| 54 | Chronic sinusitis (HP:0011109) | 1.71476332 |
| 55 | Spastic tetraparesis (HP:0001285) | 1.68110312 |
| 56 | Microglossia (HP:0000171) | 1.67796129 |
| 57 | Abnormal gallbladder physiology (HP:0012438) | 1.64960528 |
| 58 | Cholecystitis (HP:0001082) | 1.64960528 |
| 59 | Supernumerary spleens (HP:0009799) | 1.64090705 |
| 60 | Abnormality of molar morphology (HP:0011070) | 1.64014572 |
| 61 | Abnormality of molar (HP:0011077) | 1.64014572 |
| 62 | Renal dysplasia (HP:0000110) | 1.63313292 |
| 63 | Abnormality of the dental pulp (HP:0006479) | 1.59799245 |
| 64 | Cone-shaped epiphyses of the phalanges of the hand (HP:0010230) | 1.59473687 |
| 65 | Postaxial hand polydactyly (HP:0001162) | 1.59206462 |
| 66 | Heterotopia (HP:0002282) | 1.58889300 |
| 67 | Facial cleft (HP:0002006) | 1.57691055 |
| 68 | Abnormality of renal excretion (HP:0011036) | 1.55318793 |
| 69 | Bell-shaped thorax (HP:0001591) | 1.51785443 |
| 70 | Congenital primary aphakia (HP:0007707) | 1.50866675 |
| 71 | Gait imbalance (HP:0002141) | 1.49762451 |
| 72 | Aplasia/Hypoplasia of the fibula (HP:0006492) | 1.48870167 |
| 73 | Absent epiphyses (HP:0010577) | 1.48293948 |
| 74 | Aplasia/Hypoplasia of the capital femoral epiphysis (HP:0005003) | 1.48293948 |
| 75 | Dyschromatopsia (HP:0007641) | 1.45730076 |
| 76 | Cystic liver disease (HP:0006706) | 1.44077996 |
| 77 | Deformed sella turcica (HP:0002681) | 1.41825956 |
| 78 | Aplasia/Hypoplasia of the tongue (HP:0010295) | 1.41782912 |
| 79 | 11 pairs of ribs (HP:0000878) | 1.39643821 |
| 80 | Abnormal biliary tract physiology (HP:0012439) | 1.39186860 |
| 81 | Bile duct proliferation (HP:0001408) | 1.39186860 |
| 82 | Median cleft lip (HP:0000161) | 1.38736066 |
| 83 | Short thorax (HP:0010306) | 1.37387501 |
| 84 | Pancreatic fibrosis (HP:0100732) | 1.36112097 |
| 85 | Broad distal phalanx of finger (HP:0009836) | 1.32581276 |
| 86 | Aplasia/Hypoplasia of the lens (HP:0008063) | 1.30579980 |
| 87 | Abnormality of ocular smooth pursuit (HP:0000617) | 1.28870419 |
| 88 | Breast carcinoma (HP:0003002) | 1.28775909 |
| 89 | Decreased central vision (HP:0007663) | 1.28262960 |
| 90 | Nephropathy (HP:0000112) | 1.27772797 |
| 91 | Nephrogenic diabetes insipidus (HP:0009806) | 1.27648259 |
| 92 | Aplasia/Hypoplasia of the frontal sinuses (HP:0009119) | 1.25664843 |
| 93 | Pachygyria (HP:0001302) | 1.19824494 |
| 94 | Abnormal urine output (HP:0012590) | 1.19820974 |
| 95 | True hermaphroditism (HP:0010459) | 1.16883730 |
| 96 | Conjunctival telangiectasia (HP:0000524) | 1.16545559 |
| 97 | Hypoplasia of dental enamel (HP:0006297) | 1.15317187 |
| 98 | Asymmetric septal hypertrophy (HP:0001670) | 1.15183928 |
| 99 | Choroideremia (HP:0001139) | 1.14849334 |
| 100 | Decreased motor nerve conduction velocity (HP:0003431) | 1.14578321 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | PDK4 | 9.30038434 |
| 2 | PDK3 | 9.30038434 |
| 3 | PDK2 | 6.04025935 |
| 4 | TESK1 | 4.33664489 |
| 5 | PRKD3 | 3.80141878 |
| 6 | ICK | 3.22503500 |
| 7 | PNCK | 2.41434757 |
| 8 | PTK2B | 2.35270775 |
| 9 | WNK4 | 2.23438451 |
| 10 | STK39 | 2.13177513 |
| 11 | NEK2 | 1.73289684 |
| 12 | STK38 | 1.25286076 |
| 13 | MAPK15 | 1.08043174 |
| 14 | DYRK1B | 1.04505003 |
| 15 | WNK1 | 0.97984099 |
| 16 | PDK1 | 0.91712936 |
| 17 | TYRO3 | 0.90628332 |
| 18 | PASK | 0.85609128 |
| 19 | CCNB1 | 0.81757464 |
| 20 | STK3 | 0.80397122 |
| 21 | DYRK3 | 0.74939692 |
| 22 | CDC7 | 0.73159611 |
| 23 | IRAK1 | 0.65789868 |
| 24 | TTK | 0.62087468 |
| 25 | WEE1 | 0.59006794 |
| 26 | CAMK1G | 0.58134935 |
| 27 | LMTK2 | 0.56211027 |
| 28 | PINK1 | 0.50643075 |
| 29 | CHEK2 | 0.48623976 |
| 30 | CHEK1 | 0.47204189 |
| 31 | TESK2 | 0.43597963 |
| 32 | ATR | 0.43441030 |
| 33 | PLK4 | 0.40992741 |
| 34 | MAP2K6 | 0.40252730 |
| 35 | ATM | 0.33017267 |
| 36 | PDPK1 | 0.32949954 |
| 37 | EEF2K | 0.29814486 |
| 38 | STK38L | 0.29502391 |
| 39 | PAK1 | 0.29203366 |
| 40 | MTOR | 0.27640112 |
| 41 | NTRK2 | 0.27541915 |
| 42 | PAK2 | 0.25034463 |
| 43 | CDK12 | 0.24438453 |
| 44 | MUSK | 0.23541471 |
| 45 | CAMKK1 | 0.22306286 |
| 46 | PLK1 | 0.21745671 |
| 47 | BMPR1B | 0.21049417 |
| 48 | IRAK2 | 0.20732975 |
| 49 | PRKCG | 0.20728687 |
| 50 | RIPK4 | 0.19512388 |
| 51 | PRKAA1 | 0.17866884 |
| 52 | MAPKAPK5 | 0.16815997 |
| 53 | RPS6KB1 | 0.15658490 |
| 54 | NEK6 | 0.14548696 |
| 55 | BRSK2 | 0.13326915 |
| 56 | MARK2 | 0.12295534 |
| 57 | WNK3 | 0.10462353 |
| 58 | CSNK1D | 0.07501768 |
| 59 | MAP3K10 | 0.05620292 |
| 60 | PRKCZ | 0.05256657 |
| 61 | CSNK2A1 | 0.05253308 |
| 62 | CDK1 | 0.04898852 |
| 63 | PRKG1 | 0.04864328 |
| 64 | PRKCQ | 0.04362927 |
| 65 | CDK2 | 0.03931660 |
| 66 | GSK3B | 0.03912138 |
| 67 | PRKACG | 0.03823196 |
| 68 | BRAF | 0.03618541 |
| 69 | CDK15 | 0.03498681 |
| 70 | MARK3 | 0.03481042 |
| 71 | PAK4 | 0.03467548 |
| 72 | MAP3K4 | 0.02900858 |
| 73 | MAPK8 | 0.02345525 |
| 74 | PRKDC | 0.02278004 |
| 75 | ZAP70 | 0.02072815 |
| 76 | PRKACB | 0.01616433 |
| 77 | CDK3 | 0.01497142 |
| 78 | CDK18 | 0.01448661 |
| 79 | CSNK2A2 | 0.01322989 |
| 80 | CDK11A | 0.00533223 |
| 81 | RPS6KA1 | 0.00471539 |
| 82 | PRKG2 | 0.00075327 |
| 83 | PKN1 | -0.0412459 |
| 84 | PRKCA | -0.0355035 |
| 85 | MAPK1 | -0.0335662 |
| 86 | CDK4 | -0.0299947 |
| 87 | CAMK2A | -0.0291244 |
| 88 | CDK6 | -0.0281082 |
| 89 | MAPK10 | -0.0254896 |
| 90 | RIPK1 | -0.0180386 |
| 91 | RPS6KA3 | -0.0136569 |
| 92 | CDK14 | -0.0112094 |
| 93 | CSF1R | -0.0091093 |
| 94 | STK11 | -0.0087732 |
| 95 | PRKCB | -0.0087597 |
| 96 | EGFR | -0.0076886 |
| 97 | PAK6 | -0.0053946 |
| 98 | BRSK1 | -0.0040735 |
| 99 | PDGFRB | -0.0037589 |
| 100 | STK10 | -0.0036089 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Vitamin B6 metabolism_Homo sapiens_hsa00750 | 4.99932425 |
| 2 | Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010 | 4.45477320 |
| 3 | Pyruvate metabolism_Homo sapiens_hsa00620 | 4.39129581 |
| 4 | Propanoate metabolism_Homo sapiens_hsa00640 | 3.45483449 |
| 5 | Fatty acid biosynthesis_Homo sapiens_hsa00061 | 3.29977422 |
| 6 | Glucagon signaling pathway_Homo sapiens_hsa04922 | 2.90209398 |
| 7 | Basal transcription factors_Homo sapiens_hsa03022 | 2.63170701 |
| 8 | Selenocompound metabolism_Homo sapiens_hsa00450 | 2.50727767 |
| 9 | alpha-Linolenic acid metabolism_Homo sapiens_hsa00592 | 2.41184983 |
| 10 | Pentose phosphate pathway_Homo sapiens_hsa00030 | 2.36537275 |
| 11 | Dorso-ventral axis formation_Homo sapiens_hsa04320 | 2.33549388 |
| 12 | Linoleic acid metabolism_Homo sapiens_hsa00591 | 2.31738268 |
| 13 | Fanconi anemia pathway_Homo sapiens_hsa03460 | 2.16274861 |
| 14 | Oocyte meiosis_Homo sapiens_hsa04114 | 2.03071260 |
| 15 | Glycerolipid metabolism_Homo sapiens_hsa00561 | 1.95710581 |
| 16 | Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141 | 1.90577942 |
| 17 | Carbohydrate digestion and absorption_Homo sapiens_hsa04973 | 1.81734938 |
| 18 | Proximal tubule bicarbonate reclamation_Homo sapiens_hsa04964 | 1.79914854 |
| 19 | Glycosaminoglycan degradation_Homo sapiens_hsa00531 | 1.77092925 |
| 20 | Huntingtons disease_Homo sapiens_hsa05016 | 1.68541451 |
| 21 | PPAR signaling pathway_Homo sapiens_hsa03320 | 1.66358082 |
| 22 | Cysteine and methionine metabolism_Homo sapiens_hsa00270 | 1.64721698 |
| 23 | Butirosin and neomycin biosynthesis_Homo sapiens_hsa00524 | 1.55743406 |
| 24 | Amphetamine addiction_Homo sapiens_hsa05031 | 1.54715563 |
| 25 | Carbon metabolism_Homo sapiens_hsa01200 | 1.45257027 |
| 26 | Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512 | 1.42039606 |
| 27 | Fructose and mannose metabolism_Homo sapiens_hsa00051 | 1.41096992 |
| 28 | Renin secretion_Homo sapiens_hsa04924 | 1.32110581 |
| 29 | Glycerophospholipid metabolism_Homo sapiens_hsa00564 | 1.30743661 |
| 30 | Longevity regulating pathway - multiple species_Homo sapiens_hsa04213 | 1.30170055 |
| 31 | mRNA surveillance pathway_Homo sapiens_hsa03015 | 1.29417768 |
| 32 | RNA transport_Homo sapiens_hsa03013 | 1.21500219 |
| 33 | Cardiac muscle contraction_Homo sapiens_hsa04260 | 1.21434280 |
| 34 | Antigen processing and presentation_Homo sapiens_hsa04612 | 1.20386227 |
| 35 | Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760 | 1.15446273 |
| 36 | Mineral absorption_Homo sapiens_hsa04978 | 1.03403367 |
| 37 | Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa04961 | 1.03087823 |
| 38 | Fat digestion and absorption_Homo sapiens_hsa04975 | 1.02165860 |
| 39 | Ether lipid metabolism_Homo sapiens_hsa00565 | 1.00782157 |
| 40 | Fatty acid metabolism_Homo sapiens_hsa01212 | 1.00521624 |
| 41 | Purine metabolism_Homo sapiens_hsa00230 | 1.00141382 |
| 42 | Biosynthesis of amino acids_Homo sapiens_hsa01230 | 0.96805679 |
| 43 | Fatty acid degradation_Homo sapiens_hsa00071 | 0.94795278 |
| 44 | Citrate cycle (TCA cycle)_Homo sapiens_hsa00020 | 0.94348420 |
| 45 | Ubiquitin mediated proteolysis_Homo sapiens_hsa04120 | 0.90361425 |
| 46 | Long-term potentiation_Homo sapiens_hsa04720 | 0.82026464 |
| 47 | Drug metabolism - cytochrome P450_Homo sapiens_hsa00982 | 0.80402447 |
| 48 | ABC transporters_Homo sapiens_hsa02010 | 0.76834778 |
| 49 | Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980 | 0.74197299 |
| 50 | Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa04960 | 0.69527480 |
| 51 | Estrogen signaling pathway_Homo sapiens_hsa04915 | 0.69223459 |
| 52 | Central carbon metabolism in cancer_Homo sapiens_hsa05230 | 0.68333672 |
| 53 | Glutathione metabolism_Homo sapiens_hsa00480 | 0.67985199 |
| 54 | Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa05014 | 0.67546373 |
| 55 | Vasopressin-regulated water reabsorption_Homo sapiens_hsa04962 | 0.64354839 |
| 56 | Chemical carcinogenesis_Homo sapiens_hsa05204 | 0.61845035 |
| 57 | cGMP-PKG signaling pathway_Homo sapiens_hsa04022 | 0.59877701 |
| 58 | Calcium signaling pathway_Homo sapiens_hsa04020 | 0.59489657 |
| 59 | Collecting duct acid secretion_Homo sapiens_hsa04966 | 0.56468636 |
| 60 | Legionellosis_Homo sapiens_hsa05134 | 0.52992817 |
| 61 | Adipocytokine signaling pathway_Homo sapiens_hsa04920 | 0.51532611 |
| 62 | N-Glycan biosynthesis_Homo sapiens_hsa00510 | 0.50359859 |
| 63 | Arachidonic acid metabolism_Homo sapiens_hsa00590 | 0.49902658 |
| 64 | Insulin secretion_Homo sapiens_hsa04911 | 0.49246153 |
| 65 | VEGF signaling pathway_Homo sapiens_hsa04370 | 0.49057780 |
| 66 | Hedgehog signaling pathway_Homo sapiens_hsa04340 | 0.48458571 |
| 67 | Thyroid hormone synthesis_Homo sapiens_hsa04918 | 0.46234669 |
| 68 | Bile secretion_Homo sapiens_hsa04976 | 0.45869980 |
| 69 | Phosphatidylinositol signaling system_Homo sapiens_hsa04070 | 0.45405485 |
| 70 | Inositol phosphate metabolism_Homo sapiens_hsa00562 | 0.45108920 |
| 71 | AMPK signaling pathway_Homo sapiens_hsa04152 | 0.43067540 |
| 72 | Renin-angiotensin system_Homo sapiens_hsa04614 | 0.40975492 |
| 73 | Endocytosis_Homo sapiens_hsa04144 | 0.39420553 |
| 74 | Taste transduction_Homo sapiens_hsa04742 | 0.36191652 |
| 75 | Metabolic pathways_Homo sapiens_hsa01100 | 0.36152561 |
| 76 | Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914 | 0.34452659 |
| 77 | Systemic lupus erythematosus_Homo sapiens_hsa05322 | 0.32071625 |
| 78 | Protein digestion and absorption_Homo sapiens_hsa04974 | 0.30920716 |
| 79 | Pentose and glucuronate interconversions_Homo sapiens_hsa00040 | 0.29384161 |
| 80 | Synaptic vesicle cycle_Homo sapiens_hsa04721 | 0.27664311 |
| 81 | Pancreatic secretion_Homo sapiens_hsa04972 | 0.27142433 |
| 82 | Circadian entrainment_Homo sapiens_hsa04713 | 0.26464754 |
| 83 | RNA degradation_Homo sapiens_hsa03018 | 0.26218010 |
| 84 | Thyroid hormone signaling pathway_Homo sapiens_hsa04919 | 0.24968474 |
| 85 | Vascular smooth muscle contraction_Homo sapiens_hsa04270 | 0.24530839 |
| 86 | Pyrimidine metabolism_Homo sapiens_hsa00240 | 0.24464926 |
| 87 | Salivary secretion_Homo sapiens_hsa04970 | 0.23783442 |
| 88 | Homologous recombination_Homo sapiens_hsa03440 | 0.22332584 |
| 89 | B cell receptor signaling pathway_Homo sapiens_hsa04662 | 0.22294235 |
| 90 | Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa01040 | 0.21638556 |
| 91 | Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa04261 | 0.21632084 |
| 92 | Gastric acid secretion_Homo sapiens_hsa04971 | 0.20949834 |
| 93 | cAMP signaling pathway_Homo sapiens_hsa04024 | 0.20070224 |
| 94 | Wnt signaling pathway_Homo sapiens_hsa04310 | 0.19169250 |
| 95 | Cell cycle_Homo sapiens_hsa04110 | 0.18325314 |
| 96 | Retinol metabolism_Homo sapiens_hsa00830 | 0.14235509 |
| 97 | Viral carcinogenesis_Homo sapiens_hsa05203 | 0.10961700 |
| 98 | Sulfur metabolism_Homo sapiens_hsa00920 | 0.09288594 |
| 99 | Glutamatergic synapse_Homo sapiens_hsa04724 | 0.07550489 |
| 100 | Cocaine addiction_Homo sapiens_hsa05030 | 0.07164586 |

